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Our changing approach to rare cancers is driving progress, but we still have further to go


To mark Rare Cancer Day, Isy Godfrey looks at how we are making progress in this field and speaks with paediatric brain tumour expert Professor Chris Jones about his experiences.

Posted on 30 September, 2023 by Isy Godfrey

Tumour Profiling Unit (Jan Chlebik for the ICR, 2013)

Image: Tumour profiling work in the laboratory

Today marks Rare Cancer Day, an opportune moment to reflect on the challenges that people with rare cancers still face, as well as what we are doing – and still need to do – to overcome them.

Most people will have heard the statement that one in two people in the UK will develop cancer during their lifetime. Cancer is one of the most common health problems both here and abroad.

But ‘cancer’ is a broad term for diseases that occur when abnormal cells multiply uncontrollably or move outside of their usual boundaries in the body. As this can occur in almost any tissue, there are more than 200 different types of cancer. These vary significantly in terms of how they develop and progress, how many people they affect and how likely they are to be fatal.

People with rare cancers continue to face extra challenges

More than half of cancers fall into four types: prostate, breast, lung and colorectal. For each of these common cancers, there are well-established fundraising bodies, online communities and patient support groups, giving most people relatively easy access to information about the condition and contacts with shared experiences. There is often a well-established care pathway, with most clinicians trained to diagnose the condition and select the best treatment options.

Living with a cancer diagnosis can be a lonelier experience for those with uncommon types of cancer, which include gallbladder cancer, hairy cell leukaemia, Kaposi sarcoma and male breast cancer.

The definition of a rare cancer varies, with experts unsure whether the diagnosis rate should be below six or two per 100,000 people in a year. Based on the former definition, there are 198 different types of rare cancers, which, all together, represent almost one quarter of all cancer cases in the UK each year.

Arguably, we shouldn’t place these cancers under a single umbrella because they might not have much in common in terms of their causes, biology and symptoms. However, those living with rare cancers – a significant number of people in total – probably share many of the same frustrations.

They might be struggling to get a diagnosis for a condition of which many clinicians have little to no experience. They might be having difficulty finding information about the condition and their treatment options, which may be limiting their ability to advocate for themselves. And they might be unable to connect with other people who understand what they are experiencing. Research has shown that support groups can make people feel less isolated, anxious and depressed, enhancing their ability to cope. A lack of support can therefore have a significant effect on a patient’s quality of life.

An unacceptable difference in outcomes persists

Overall, cancer survival rates are increasing, rising by nearly 10 per cent between 2005 and 2020. While this progress is extremely welcome, it is not currently translating across all cancer types.

The scarcity of knowledge surrounding some rare cancer types translates into poorer outcomes because clinicians do not yet have the understanding and tools to treat these diseases effectively. Rare cancer types account for many of the lowest rates of survival in cancer, with some having a 1-year survival rate of less than 50 per cent.

And even though less survivable cancers are responsible for half of all cancer deaths in the UK, less than 7 per cent of government research funding over the past decade has been allotted to them. Pharmaceutical companies and funding bodies can also be hesitant to invest in treatments for uncommon diseases in case they cannot recoup their costs. In addition, some scientists prefer to work on cancers that affect more people, wishing for their findings to have a large impact.

The horizon is looking brighter

Luckily, we are starting to see a shift in priorities. In 2021, the UK joined the other 192 United Nations (UN) Member States in adopting a UN Resolution to recognise the specific challenges faced by people living with rare diseases and by their families. The aim of the Resolution is to increase awareness of rare diseases and to empower people living with them by acknowledging their need for particular attention.

On the back of this, in 2022, the UK Government started publishing an annual Rare Diseases Action Plan for England. As one of the identified actions to drive further improvement for 2023, the government has announced additional funding for research, expert collaborations and medicines.

On the science side, recent research has shown that up to half of the cancer-associated proteins considered ‘immune’ to treatment may actually be targetable. An increasing number of researchers are also interested in working on rare cancers, realising that they can reveal new insights into tumour biology, which allow research findings to be applied more broadly across cancer types.

Global collaboration is key

At The Institute of Cancer Research, we have long appreciated the importance of studying as wide a range of cancers as possible. Our multidisciplinary, collaborative approach means that our research teams can learn from each other’s findings and apply these learnings to their own areas of expertise.

However, we need to expand this setup globally so that an international network of researchers can work together to drive change. This has already proven successful in childhood brain tumours, which are considered rare because they affect between one and five in 100,000 children. We spoke with Professor Chris Jones – Group Leader in the Molecular Pathology division at the ICR, where he heads the Glioma Team – to learn more. Professor Jones said:

“Childhood brain tumours are uncommon, which makes it difficult to study them in the large numbers we need to make robust conclusions. This need to collaborate has brought the community together, allowing us to maximise our efforts internationally. This cooperation spans discovery science to clinical trials, involving not only researchers and clinicians but also parent groups and funding foundations.”

This approach has led to significant advances in Professor Jones’s area of focus – diffuse high-grade glioma in children. He explained:

“In the last few years, we have observed that these tumours are different from those in adults and that they are not one entity in themselves. Instead, they represent many different subtypes requiring separate investigation. In infant gliomas, for example, we have now identified the specific genetics responsible for the disease and shown that targeted therapies can be highly effective.”

We need to identify and target the unique features of rare cancers

Another promising shift over the past decade has been the introduction of targeted therapies for rare cancers, which are much more likely to be effective than the nonspecific treatments previously offered to many of these patients.

Professor Jones said that this has changed the approach to treating childhood brain tumours:

“For too long, treatments were based on the data or experiences of adults. We are now working to develop new clinical trials using therapies aimed against targets specific to the childhood tumours. Scientific decisions are now based on robust, critically evaluated preclinical data in appropriate model systems, and we take individual genetics into account as part of patient selection and treatment assignment.”

However, the development of targeted drugs is reliant on researchers studying the particular cancer type in the population of interest, which is extremely challenging when the affected population is very small. Researchers need a minimum number of participants to gather sufficient data on the safety and efficacy of different treatments, and there are not always enough people who are eligible, let alone both willing and able, to take part.

Promisingly, researchers are trying out various ways of overcoming this barrier. The methods extend from using the basket trial design – in which a treatment is given to people with a range of different, but relevant, diseases – to increasing trial accessibility by limiting the number of visits required for treatment.

Looking to the future

Our deeper understanding of the complexities of cancer and the ever-increasing number of powerful research tools at our disposal are causes for optimism.

At the ICR, some of the most talented minds in science are working together with the shared goal of defeating cancer. Every year, we make further inroads into effective treatments for cancer, including rare types, and we have no intention of stopping!

This Rare Cancer Day, we celebrate the progress we have made in diagnosing and treating rare cancers and commit to working as hard as possible to improve the lives of more patients with these challenging conditions.


Chris Jones childhood cancer rare cancers Glioma glioma team molecular pathology
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